Product Details

SNP ID

rs3918211

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151013819 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCACATGTTTGTCTGCGGCGATGT[C/T]ACCATGGCAACCAACGTCCTGCAGA

Phenotype

MIM: 612205 MIM: 163729

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATG9B PubMed Links

Gene Details

Gene

ATG9B

Gene Name

autophagy related 9B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317056.1	3404	Intron			NP_001303985.1
XM_011516065.1	3404	Intron			XP_011514367.1
XM_011516066.2	3404	Intron			XP_011514368.1

Gene

NOS3

Gene Name

nitric oxide synthase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000603.4	3404	Silent Mutation	GTC,GTT	V1117V	NP_000594.2
NM_001160109.1	3404	Intron			NP_001153581.1
NM_001160110.1	3404	Intron			NP_001153582.1
NM_001160111.1	3404	Intron			NP_001153583.1
XM_006716002.3	3404	Intron			XP_006716065.1
XM_017012232.1	3404	Silent Mutation	GTC,GTT	V1117V	XP_016867721.1
XM_017012233.1	3404	Silent Mutation	GTC,GTT	V911V	XP_016867722.1
XM_017012234.1	3404	Intron			XP_016867723.1

View Full Product Details